Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ABCE1	6059	broad.mit.edu	37	4	146032140	146032140	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr4:146032140C>T	ENST00000296577.4	+	8	1149	c.634C>T	c.(634-636)Cga>Tga	p.R212*	ABCE1_ENST00000502803.1_Intron|OTUD4_ENST00000455611.2_5'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	212	ABC transporter 1.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CCTAAAAGAACGAAATGTTGA	0.363000													7	68					0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75516298	75516298	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr14:75516298A>C	ENST00000355774.2	-	2	276	c.61T>G	c.(61-63)Tcc>Gcc	p.S21A	MLH3_ENST00000556257.1_Missense_Mutation_p.S21A|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.S21A|MLH3_ENST00000556740.1_Missense_Mutation_p.S21A	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	21					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGGCCCAAGGAGCTTATGGCC	0.458000								Mismatch excision repair (MMR)					25	20					0	0	1	0	0
BLOC1S5-TXNDC5	0	broad.mit.edu	37	6	7888998	7888998	+	Silent	SNP	C	C	G	rs142347872		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr6:7888998C>G	ENST00000539054.1	-	7	686	c.687G>C	c.(685-687)gcG>gcC	p.A229A	TXNDC5_ENST00000473453.1_Silent_p.A193A|BLOC1S5-TXNDC5_ENST00000604490.1_Silent_p.A193A|TXNDC5_ENST00000379757.4_Silent_p.A301A																							CGGTCTCCGTCGCTCCAGTCT	0.647000													8	139					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732432	152732432	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr1:152732432A>G	ENST00000368773.1	+	2	426	c.368A>G	c.(367-369)gAa>gGa	p.E123G	KPRP_ENST00000606109.1_Missense_Mutation_p.E123G	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	123	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCAGTGCGAAGCGTCACAA	0.493000													11	226					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74347285	74347285	+	Silent	SNP	G	G	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr9:74347285G>T	ENST00000377044.4	-	7	2084	c.1545C>A	c.(1543-1545)acC>acA	p.T515T	TMEM2_ENST00000377066.5_Silent_p.T452T	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	515						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GTCCCCCAAAGGTATCATAAT	0.383000													4	78					0.00024832	0.000280247	1	1	0
MOCS3	27304	broad.mit.edu	37	20	49575490	49575490	+	Silent	SNP	A	A	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr20:49575490A>G	ENST00000244051.1	+	1	128	c.111A>G	c.(109-111)gaA>gaG	p.E37E		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	37					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						CTGAGCAGGAACCGCAGCCAG	0.612000													25	88					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													4	60					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12121547	12121547	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr6:12121547G>C	ENST00000379388.2	+	4	1851	c.1519G>C	c.(1519-1521)Gac>Cac	p.D507H		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	507					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAGACAGCATGACCTGGGCGC	0.493000													5	36					0	0	1	0	0
INHBE	83729	broad.mit.edu	37	12	57850626	57850626	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr12:57850626A>T	ENST00000266646.2	+	2	1264	c.1048A>T	c.(1048-1050)Agc>Tgc	p.S350C	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	350					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CTGTGGCTGCAGCTAGCAAGA	0.557000											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	70					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186057368	186057368	+	Silent	SNP	A	A	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr1:186057368A>C	ENST00000271588.4	+	62	9766	c.9537A>C	c.(9535-9537)ccA>ccC	p.P3179P	HMCN1_ENST00000367492.2_Silent_p.P3179P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3179	Ig-like C2-type 30.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGGGATCCCACCTCCCACGA	0.438000													26	30					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26222385	26222385	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr22:26222385T>C	ENST00000335473.7	+	14	2955	c.2705T>C	c.(2704-2706)aTg>aCg	p.M902T	MYO18B_ENST00000407587.2_Missense_Mutation_p.M902T|MYO18B_ENST00000536101.1_Missense_Mutation_p.M902T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	902	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGGCTCAAGATGACAGGAGTG	0.542000													45	59					0	0	1	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95091155	95091155	+	Missense_Mutation	SNP	C	C	G	rs141124421		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr5:95091155C>G	ENST00000379982.3	+	6	1246	c.738C>G	c.(736-738)aaC>aaG	p.N246K	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	246					retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		ACTTAAATAACTTGCTGTTCT	0.378000													29	137					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55719086	55719086	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr16:55719086G>A	ENST00000379906.2	+	4	931	c.676G>A	c.(676-678)Ggg>Agg	p.G226R	SLC6A2_ENST00000414754.3_Missense_Mutation_p.G226R|SLC6A2_ENST00000568943.1_Missense_Mutation_p.G226R|SLC6A2_ENST00000567238.1_Missense_Mutation_p.G121R|SLC6A2_ENST00000566163.1_Missense_Mutation_p.G226R|SLC6A2_ENST00000561820.1_Missense_Mutation_p.G226R|SLC6A2_ENST00000219833.8_Missense_Mutation_p.G226R	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	226					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CGAGAGCAGCGGGATTCATGA	0.587000													8	31					0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927617	55927617	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr11:55927617C>T	ENST00000313447.1	-	1	176	c.177G>A	c.(175-177)atG>atA	p.M59I		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TAGAAAAGTACATAGGTGTAT	0.398000													4	110					0	0	1	0	0
CLIC5	53405	broad.mit.edu	37	6	45917025	45917025	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr6:45917025C>A	ENST00000185206.6	-	3	896	c.744G>T	c.(742-744)gaG>gaT	p.E248D	CLIC5_ENST00000339561.6_Missense_Mutation_p.E89D|CLIC5_ENST00000544153.1_Missense_Mutation_p.E89D	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	248					female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CCAGGAACTCCTCGATCTTAT	0.532000													39	60					6.2361e-21	7.57927e-21	1	1	0
AGPAT6	137964	broad.mit.edu	37	8	41456786	41456786	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr8:41456786G>A	ENST00000396987.3	+	2	1055	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	43					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	p.R43H(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			TTTGGTATCCGCAAACTCTAC	0.433000													4	114					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131812796	131812796	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr8:131812796T>C	ENST00000286355.5	-	15	5028	c.2936A>G	c.(2935-2937)gAt>gGt	p.D979G	ADCY8_ENST00000377928.3_Missense_Mutation_p.D848G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	979					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCCAACAGCATCATAGGATTG	0.498000										HNSCC(32;0.087)			18	44					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27446568	27446568	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr2:27446568A>G	ENST00000264705.4	+	7	1109	c.947A>G	c.(946-948)aAt>aGt	p.N316S	CAD_ENST00000403525.1_Missense_Mutation_p.N316S	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	316	GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ACCAACGCCAATGATGGTTCC	0.537000													126	204					0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47233957	47233957	+	Missense_Mutation	SNP	G	G	A	rs149941656		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr17:47233957G>A	ENST00000300404.2	+	5	729	c.670G>A	c.(670-672)Gtc>Atc	p.V224I	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.V164I|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.V138I	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	224					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	p.V224I(2)		endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CGATGCCCCCGTCTATGAGGT	0.572000													14	56					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36671774	36671774	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr8:36671774T>C	ENST00000399881.3	+	8	819	c.782T>C	c.(781-783)aTa>aCa	p.I261T		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	261						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCACAGAATATATCATATTTT	0.423000													6	11					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150690908	150690908	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr7:150690908G>C	ENST00000297494.3	+	2	374	c.17G>C	c.(16-18)aGc>aCc	p.S6T	NOS3_ENST00000467517.1_Missense_Mutation_p.S6T|NOS3_ENST00000484524.1_Missense_Mutation_p.S6T|NOS3_ENST00000461406.1_Intron	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	6					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AACTTGAAGAGCGTGGCCCAG	0.697000													15	24					0	0	1	0	0
ACSL4	2182	broad.mit.edu	37	X	108887278	108887278	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chrX:108887278G>A	ENST00000340800.2	-	17	2620	c.2116C>T	c.(2116-2118)Cga>Tga	p.R706*	ACSL4_ENST00000469796.2_Nonsense_Mutation_p.R706*|ACSL4_ENST00000348502.6_Nonsense_Mutation_p.R665*	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	706					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	CCATACATTCGTTCAATGTCT	0.423000													25	37					0	0	1	0	0
GBP4	115361	broad.mit.edu	37	1	89659075	89659075	+	Silent	SNP	C	C	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr1:89659075C>T	ENST00000355754.6	-	4	481	c.384G>A	c.(382-384)tcG>tcA	p.S128S		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	128						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CAAAGATCCACGAGTCATTCT	0.433000													13	67					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29639273	29639273	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr12:29639273G>A	ENST00000318184.5	-	8	900	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	301	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GGTTGGCCCCGATCCAAACCT	0.388000													14	46					0	0	1	0	0
B3GALT1	8708	broad.mit.edu	37	2	168725946	168725946	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr2:168725946G>C	ENST00000305861.1	+	2	748	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000392690.2_Missense_Mutation_p.E133Q	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	133					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						GGTGGAGCAAGAGAGCCAAAT	0.473000													40	39					0	0	1	0	0
PRL	5617	broad.mit.edu	37	6	22287738	22287738	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr6:22287738G>T	ENST00000306482.1	-	5	1095	c.577C>A	c.(577-579)Ctt>Att	p.L193I	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	193					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TAAGCAGAAAGGCGAGACTCT	0.443000													4	73					0.000602214	0.000651711	1	1	0
IMPG2	50939	broad.mit.edu	37	3	100961732	100961732	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr3:100961732G>A	ENST00000193391.7	-	14	3009	c.2822C>T	c.(2821-2823)tCa>tTa	p.S941L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	941	SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CGTGAGATTTGACTGGAGATA	0.393000													23	80					0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74306410	74306410	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr4:74306410G>T	ENST00000395792.2	+	4	462	c.362G>T	c.(361-363)aGa>aTa	p.R121I	AFP_ENST00000226359.2_Missense_Mutation_p.R121I	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	121	Albumin 1.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAAGAGGGAAGACATAACTGT	0.438000									Alpha-Fetoprotein, Hereditary Persistence of				12	35					7.03913e-09	8.17781e-09	1	1	0
ROR2	4920	broad.mit.edu	37	9	94493426	94493426	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr9:94493426A>T	ENST00000375708.3	-	7	1147	c.949T>A	c.(949-951)Tat>Aat	p.Y317N	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.Y177N	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	317	Kringle.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GAGCCGTTATAGCACTGATGG	0.532000													22	56					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								44	50					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	rs28934576	by1000genomes	TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr17:7577120C>A	ENST00000420246.2	-	8	950	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000269305.4_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			20	6					1.00905e-13	1.18977e-13	1	1	0
RBL2	5934	broad.mit.edu	37	16	53495680	53495680	+	Silent	SNP	T	T	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr16:53495680T>C	ENST00000262133.6	+	10	1511	c.1374T>C	c.(1372-1374)gcT>gcC	p.A458A	RBL2_ENST00000544545.1_Silent_p.A242A|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	458	Domain A.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAACCCAGGCTATTGCTAACA	0.343000													15	39					0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47825055	47825055	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr11:47825055C>G	ENST00000378460.2	-	22	2756	c.2710G>C	c.(2710-2712)Gtc>Ctc	p.V904L	NUP160_ENST00000530326.1_Missense_Mutation_p.V790L|NUP160_ENST00000528071.1_Missense_Mutation_p.V790L	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	904					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CCAACATTGACTTGACACCAG	0.358000													37	88					0	0	1	0	0
TAS2R19	259294	broad.mit.edu	37	12	11174543	11174543	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr12:11174543G>A	ENST00000390673.2	-	1	676	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	210					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.R210W(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CTATGGAGCCGCATCTTCTTG	0.403000													4	146					0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47774902	47774902	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chrX:47774902G>A	ENST00000376954.1	+	6	1225	c.857G>A	c.(856-858)aGg>aAg	p.R286K	ZNF81_ENST00000338637.7_Missense_Mutation_p.R286K			P51508	ZNF81_HUMAN	zinc finger protein 81	286						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TTCACCCAGAGGTCACATTTC	0.383000													6	29					0	0	1	0	0
IGHV1-18	0	broad.mit.edu	37	14	106641673	106641673	+	RNA	SNP	G	G	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr14:106641673G>C	ENST00000390605.2	-	0	299																											TGGAGCTTCTGTGCATAGTTT	0.542000													6	252					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72948521	72948521	+	Splice_Site	SNP	A	A	G	rs111533281		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr8:72948521A>G	ENST00000262209.4	-	21	2763		c.e21+1		TRPA1_ENST00000519720.1_Splice_Site|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1							integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AGCTTGTTTTACCTTTGAAGA	0.333000													51	70					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50944446	50944446	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr10:50944446C>A	ENST00000374103.4	-	21	2796	c.2711G>T	c.(2710-2712)aGc>aTc	p.S904I	OGDHL_ENST00000419399.1_Missense_Mutation_p.S847I|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.S695I	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	904					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CAGGTCCTGGCTGCTCCGCTC	0.622000													7	53					0.00307968	0.00324393	1	1	0
OR51T1	401665	broad.mit.edu	37	11	4903910	4903910	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr11:4903910T>C	ENST00000380378.1	+	1	862	c.862T>C	c.(862-864)Tct>Cct	p.S288P	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.S261P|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATCAGCCTCTCTTTGGCACA	0.488000													4	27					0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89167609	89167609	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr16:89167609A>G	ENST00000317447.4	+	3	897	c.520A>G	c.(520-522)Atc>Gtc	p.I174V	ACSF3_ENST00000406948.3_Missense_Mutation_p.I174V|ACSF3_ENST00000378345.4_Intron	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	174					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CACACCAGCCATCTACACTGG	0.642000													3	9					0	0	1	0	0
AKR1B10	57016	broad.mit.edu	37	7	134221422	134221422	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr7:134221422T>A	ENST00000359579.4	+	5	770	c.450T>A	c.(448-450)gaT>gaA	p.D150E	AKR1B10_ENST00000475559.1_Intron	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	150					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						AGCTGGTGGATGAGGGGCTGG	0.522000													36	66					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40587217	40587217	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr15:40587217C>T	ENST00000260402.3	-	18	2075	c.1826G>A	c.(1825-1827)cGc>cAc	p.R609H	PLCB2_ENST00000456256.2_Missense_Mutation_p.R609H|PLCB2_ENST00000557821.1_Missense_Mutation_p.R605H	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	609	PI-PLC Y-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGAGTCCATGCGGGTTCCCTT	0.567000													4	150					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20453451	20453451	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr10:20453451C>A	ENST00000377252.3	+	7	1679	c.838C>A	c.(838-840)Ctg>Atg	p.L280M	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.L231M	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	280						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GAAAGTCGGACTGTCCGATGC	0.423000													5	210					0.217242	0.217242	1	1	0
KIFC3	3801	broad.mit.edu	37	16	57803769	57803769	+	Silent	SNP	G	G	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr16:57803769G>T	ENST00000379655.4	-	8	1295	c.1038C>A	c.(1036-1038)gcC>gcA	p.A346A	KIFC3_ENST00000465878.2_Silent_p.A207A|KIFC3_ENST00000445690.2_Silent_p.A346A|KIFC3_ENST00000539578.1_Silent_p.A288A|KIFC3_ENST00000540079.2_Silent_p.A244A|KIFC3_ENST00000541240.1_Silent_p.A368A|KIFC3_ENST00000562903.1_Silent_p.A207A|KIFC3_ENST00000421376.2_Silent_p.A207A|KIFC3_ENST00000543930.1_Silent_p.A207A	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	346					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CTCTGGCAAAGGCCTCCTCAA	0.627000													3	46					0.004672	0.00485642	1	1	0
TSSC2	0	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	A	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr11:3427885A>G	ENST00000529482.1	+	0	1002																											AGCTTCACAGATCCACCGCTG	0.587000													4	15					0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57829700	57829700	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr4:57829700G>C	ENST00000264230.4	-	7	3250	c.2013C>G	c.(2011-2013)atC>atG	p.I671M		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	671							GTP binding										CACTTTTCTTGATGCGCTGTC	0.458000													98	254					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21212761	21212761	+	Silent	SNP	G	G	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr16:21212761G>T	ENST00000574002.1	-	15	2105	c.1623C>A	c.(1621-1623)gtC>gtA	p.V541V	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Silent_p.V541V|ZP2_ENST00000574091.1_Silent_p.V532V			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	541	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGTCATCTAAGACCAGCTTGA	0.512000													14	49					0.00185496	0.00198029	1	1	0
GLI2	2736	broad.mit.edu	37	2	121747054	121747054	+	Silent	SNP	G	G	T	rs140392004		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr2:121747054G>T	ENST00000452319.1	+	14	3624	c.3564G>T	c.(3562-3564)ccG>ccT	p.P1188P	GLI2_ENST00000361492.4_Silent_p.P1188P|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1188					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCTACAGTCCGCAAGGCCTAC	0.677000													3	36					0.115264	0.118258	1	1	0
PTEN	5728	broad.mit.edu	37	10	89711890	89711890	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr10:89711890A>G	ENST00000371953.3	+	6	1865	c.508A>G	c.(508-510)Agt>Ggt	p.S170G		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	170	Phosphatase tensin-type.		S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BZS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.V166fs*10(1)|p.G165_*404del(1)|p.S170fs*13(1)|p.S170G(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AACTATTCCCAGTCAGAGGCG	0.353000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			33	53					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62918870	62918870	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr12:62918870T>G	ENST00000393630.3	+	10	1507	c.1116T>G	c.(1114-1116)ttT>ttG	p.F372L	MON2_ENST00000280379.6_Missense_Mutation_p.F372L|MON2_ENST00000552115.1_Missense_Mutation_p.F372L|MON2_ENST00000546600.1_Missense_Mutation_p.F372L|MON2_ENST00000393629.2_Missense_Mutation_p.F372L|MON2_ENST00000552738.1_Missense_Mutation_p.F372L|MON2_ENST00000393632.2_Missense_Mutation_p.F372L	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	372					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ACAGGTCATTTTGTCAGTCCT	0.303000													45	45					0	0	1	0	0
HMBOX1	79618	broad.mit.edu	37	8	28837639	28837639	+	Silent	SNP	G	G	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr8:28837639G>A	ENST00000397358.3	+	5	1256	c.552G>A	c.(550-552)cgG>cgA	p.R184R	HMBOX1_ENST00000519047.1_Silent_p.R184R|HMBOX1_ENST00000355231.5_Silent_p.R184R|HMBOX1_ENST00000287701.10_Silent_p.R184R|HMBOX1_ENST00000444075.1_Silent_p.R184R|HMBOX1_ENST00000558662.1_Silent_p.R184R|HMBOX1_ENST00000524238.1_Silent_p.R184R|HMBOX1_ENST00000523613.1_Silent_p.R184R|HMBOX1_ENST00000403668.2_Silent_p.R184R	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	184					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		TTGCCAATCGGAGGATTTCCC	0.433000													7	145					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606222	84606222	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr9:84606222C>A	ENST00000344803.2	+	4	884	c.837C>A	c.(835-837)tgC>tgA	p.C279*		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CCACCCTATGCCAAGATATTT	0.502000													17	241					5.3912e-06	6.17254e-06	1	1	0
FRAS1	80144	broad.mit.edu	37	4	79443927	79443927	+	Silent	SNP	A	A	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr4:79443927A>G	ENST00000264895.6	+	69	11213	c.10773A>G	c.(10771-10773)ccA>ccG	p.P3591P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3586					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TTGATTCTCCACATCAACTCT	0.443000													7	21					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187630588	187630588	+	Silent	SNP	G	G	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr4:187630588G>T	ENST00000441802.2	-	2	603	c.394C>A	c.(394-396)Cga>Aga	p.R132R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	132	Cadherin 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.R132*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCTTTGTTCGCGCCTCCACA	0.413000										HNSCC(5;0.00058)			43	81					7.05377e-20	8.44315e-20	1	1	0
TRIM56	81844	broad.mit.edu	37	7	100732732	100732732	+	Silent	SNP	A	A	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr7:100732732A>G	ENST00000306085.6	+	3	2436	c.2139A>G	c.(2137-2139)ggA>ggG	p.G713G		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	713					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCTCCTTGGAGACTTCCTGA	0.582000													11	35					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7760682	7760682	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr16:7760682C>T	ENST00000340209.4	+	13	1441	c.1144C>T	c.(1144-1146)Ctc>Ttc	p.L382F	RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000547338.1_Missense_Mutation_p.L377F|RBFOX1_ENST00000355637.4_3'UTR|RBFOX1_ENST00000311745.5_Missense_Mutation_p.L398F|RBFOX1_ENST00000550418.1_Missense_Mutation_p.L377F|RBFOX1_ENST00000553186.1_Missense_Mutation_p.L350F|RBFOX1_ENST00000552089.1_3'UTR|RBFOX1_ENST00000547372.1_3'UTR			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	377					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TGATGTGGGTCTCGTTCTTTC	0.423000													4	143					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25264609	25264609	+	Splice_Site	SNP	G	G	C	rs12866274		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr13:25264609G>C	ENST00000218548.6	+	6	1013	c.681_splice	c.e6+1	p.R227_splice	ATP12A_ENST00000381946.3_Splice_Site_p.R227_splice	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	227				Missing (in Ref. 7; CAA49477).	ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CAGGGGTGTCGGGTAAGCGGC	0.572000													16	39					0	0	1	0	0
ALDH1A3	220	broad.mit.edu	37	15	101432734	101432734	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr15:101432734C>A	ENST00000329841.5	+	4	897	c.365C>A	c.(364-366)aCa>aAa	p.T122K	ALDH1A3_ENST00000346623.6_Intron	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	122					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	ACGATGGATACAGGGAAGCCA	0.468000													4	86					0.000602214	0.000651711	1	1	0
PCSK5	5125	broad.mit.edu	37	9	78943022	78943022	+	Silent	SNP	C	C	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr9:78943022C>T	ENST00000545128.1	+	32	4894	c.4356C>T	c.(4354-4356)aaC>aaT	p.N1452N		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	674					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCATGGCCAACGAGAAGTGCT	0.592000													9	192					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27400913	27400913	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr10:27400913A>C	ENST00000326799.3	-	20	2463	c.2315T>G	c.(2314-2316)gTg>gGg	p.V772G	YME1L1_ENST00000376016.3_Missense_Mutation_p.V715G|YME1L1_ENST00000375972.3_Missense_Mutation_p.V682G	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	772					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTATCATCTCACTTCCAACTT	0.388000													30	163					0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74313361	74313361	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr4:74313361T>A	ENST00000395792.2	+	8	1126	c.1026T>A	c.(1024-1026)ttT>ttA	p.F342L	AFP_ENST00000226359.2_Missense_Mutation_p.F342L	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	342	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTAACCAATTTTCTTCAGGGG	0.343000									Alpha-Fetoprotein, Hereditary Persistence of				15	39					0	0	1	0	0
CPB1	1360	broad.mit.edu	37	3	148545614	148545614	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr3:148545614T>A	ENST00000491148.1	+	2	338	c.4T>A	c.(4-6)Ttg>Atg	p.L2M	CPB1_ENST00000282957.4_Missense_Mutation_p.L2M			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	2					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AGACACAATGTTGGCACTCTT	0.458000													11	41					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32813109	32813109	+	Silent	SNP	C	C	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr22:32813109C>T	ENST00000397452.1	-	14	1397	c.1287G>A	c.(1285-1287)tcG>tcA	p.S429S	BPIFC_ENST00000300399.3_Silent_p.S429S|BPIFC_ENST00000432451.2_Silent_p.S186S|BPIFC_ENST00000534972.1_Silent_p.S153S			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	429						extracellular region	lipopolysaccharide binding|phospholipid binding										GAAGAATGGACGATAGAATAT	0.383000													6	158					0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													4	7	---	---	---	---					
PMS2CL	0	broad.mit.edu	37	7	6754077	6754078	+	RNA	INS	-	-	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr7:6754077_6754078insG	ENST00000486256.1	+	0	346					NR_002217.1																						GTTCCGCCCCAGGAGGTTGGAA	0.495													4	6	---	---	---	---					
CCDC132	55610	broad.mit.edu	37	7	92926525	92926526	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr7:92926525_92926526delAA	ENST00000544910.1	+	17	1461_1462	c.1241_1242delAA	c.(1240-1242)cfs	p.Q414fs	CCDC132_ENST00000541136.1_Frame_Shift_Del_p.Q255fs|CCDC132_ENST00000535481.1_Frame_Shift_Del_p.Q164fs|CCDC132_ENST00000317751.6_Frame_Shift_Del_p.Q175fs|CCDC132_ENST00000305866.5_Frame_Shift_Del_p.Q444fs	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	444										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ATTAGAAAACAAAGTGTCAATT	0.292													12	19	---	---	---	---					
EBLN1	340900	broad.mit.edu	37	10	22498484	22498485	+	In_Frame_Ins	INS	-	-	AGA	rs145490621	by1000genomes	TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr10:22498484_22498485insAGA	ENST00000422359.2	-	1	465_466	c.428_429insTCT	c.(427-429)cat>cTCTat	p.143_143H>LY		NM_001199938.1	NP_001186867.1			endogenous Bornavirus-like nucleoprotein 1																		CAATGCCTATCAGATCACAGCA	0.455													3	6	---	---	---	---					
FAM83D	81610	broad.mit.edu	37	20	37555323	37555325	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr20:37555323_37555325delGCG	ENST00000217429.4	+	1	369_371	c.328_330delGCG	c.(328-330)del	p.A116del		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	86					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AGAGGAGGGCgcggcggcggcgg	0.719													2	4	---	---	---	---